| Theme |
"Early Colorectal Cancer" and "Intestine", Road to future |
| Title |
Pathogenesis of nonspecific multiple ulcers in small intestine |
| Author |
Takayuki Matsumoto |
Division of Gastroenterology, Department of Medicine, Iwate Medical University |
| Author |
Tadakazu Hisamatsu |
Third Department of Internal Medicine, School of Medicine, Kyorin University |
| Author |
Junji Umeno |
Department of Medicine and Clinical Science, Graduate School of Medical Sciences, Kyushu University |
| Author |
Motohiro Esaki |
Department of Medicine and Clinical Science, Graduate School of Medical Sciences, Kyushu University |
| [ Summary ] |
Chronic nonspecific multiple ulcers of the small intestine (CNSU) are rare but may cause intractable enteropathy with presumably autosomal recessive hereditary traits. By using whole-exome sequencing in three patients and one unaffected individual, we identified SLCO2A1 as an encoding prostaglandin transporter for the responsible CNSU gene. The association between CNSU and SLCO2A1 was validated in two siblings with CNSU and a patient with pachydermoperiostosis, who belonged to the same family pedigree. Direct sequencing of SLCO2A1 revealed neither homozygous nor compound heterozygous mutations were evident in healthy subjects. However, 2 of 603 patients with Crohn's disease had homozygous or compound heterozygous SLCO2A1 mutations. These findings suggest that SLCO2A1 is the responsible gene for CNSU. We propose a more appropriate nomenclature would be "chronic enteropathy associated with the SLCO2A1 gene" (CEAS) for this disease. |